Canonical Allele Identifier: CA424032201

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784156-C-T
• MyVariant Identifiers: chr1:g.237947456C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784156C>T , CM000663.2:g.237784156C>T	GRCh38
NC_000001.10:g.237947456C>T , CM000663.1:g.237947456C>T	GRCh37
NC_000001.9:g.236014079C>T	NCBI36
NG_008799.2:g.746755C>T
NG_008799.3:g.746973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3536C>T	ENSP00000499659.2:n.*3536C>T
ENST00000659194.3:c.12432C>T	ENSP00000499653.3:p.Val4144=
ENST00000660292.2:c.12465C>T	ENSP00000499787.2:p.Val4155=
ENST00000659194.2:c.4621C>T
ENST00000366574.7:c.12444C>T MANE Select	ENSP00000355533.2:p.Val4148=
ENST00000659194.1:c.4621C>T
ENST00000660292.1:c.2497C>T
ENST00000360064.7:c.12396C>T	ENSP00000353174.7:p.Val4132=
ENST00000366574.6:c.12444C>T	ENSP00000355533.2:p.Val4148=
ENST00000609119.1:n.3639C>T
NM_001035.2:c.12444C>T	NP_001026.2:p.Val4148=
XM_006711802.2:c.12498C>T	XP_006711865.1:p.Val4166=
XM_006711803.2:c.12495C>T	XP_006711866.1:p.Val4165=
XM_006711804.2:c.12474C>T	XP_006711867.1:p.Val4158=
XM_006711805.2:c.12468C>T	XP_006711868.1:p.Val4156=
XM_006711806.2:c.12462C>T	XP_006711869.1:p.Val4154=
XM_006711807.2:c.12438C>T	XP_006711870.1:p.Val4146=
XM_006711808.2:c.12261C>T	XP_006711871.1:p.Val4087=
XM_006711810.2:c.12405C>T	XP_006711873.1:p.Val4135=
XM_006711802.3:c.12498C>T	XP_006711865.1:p.Val4166=
XM_006711803.3:c.12495C>T	XP_006711866.1:p.Val4165=
XM_006711804.3:c.12474C>T	XP_006711867.1:p.Val4158=
XM_006711805.3:c.12468C>T	XP_006711868.1:p.Val4156=
XM_006711806.3:c.12462C>T	XP_006711869.1:p.Val4154=
XM_006711807.3:c.12438C>T	XP_006711870.1:p.Val4146=
XM_006711808.3:c.12261C>T	XP_006711871.1:p.Val4087=
XM_006711810.3:c.12405C>T	XP_006711873.1:p.Val4135=
XM_017002028.1:c.12477C>T	XP_016857517.1:p.Val4159=
NM_001035.3:c.12444C>T MANE Select	NP_001026.2:p.Val4148=